Concepedia

Monogenic Disease Testing

Monogenic Disease Testing is a genetic screening methodology within preimplantation genetic diagnosis that specifically identifies embryos carrying pathogenic variants in a single gene associated with monogenic disorders prior to implantation.

68

Publications

3.2K

Citations

584

Authors

228

Institutions

Publications per year

2017–2026

46

Parents

Publications

68

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Zornitza Stark, Tiong Yang Tan, Belinda Chong et al. · Genetics in Medicine · 2016 · 411 citations · Full text

, , +16

Newborn Sequencing in Genomic Medicine and Public Health

Jonathan S. Berg, Pankaj B. Agrawal, Donald B. Bailey et al. · PEDIATRICS · 2017 · 235 citations · Full text

, , +17

Polygenic risk scores in the clinic: new perspectives needed on familiar ethical issues

Anna Lewis, Robert C. Green · Genome Medicine · 2021 · 186 citations · Full text

, , +17

Evaluation of targeted next-generation sequencing–based preimplantation genetic diagnosis of monogenic disease

Nathan R. Treff, Anastasia Fedick, Xin Tao et al. · Fertility and Sterility · 2013 · 169 citations · Full text

, , +15

Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders

Oliver James Dillon, Sebastian Lunke, Zornitza Stark et al. · European Journal of Human Genetics · 2018 · 131 citations · Full text

, , +16

1–5 of 68

Authors

584

  1. SE
    Sian Ellard

    University of Exeter, United Kingdom

    5 publications · 220 citations

    5

    h-index

  2. AT
    Andrew T. Hattersley

    University of Exeter, United Kingdom

    5 publications · 217 citations

    5

    h-index

  3. KC
    Kevin Colclough

    Royal Devon & Exeter NHS Foundation Trust, United Kingdom

    4 publications · 194 citations

    4

    h-index

  4. RC
    Robert C. Green

    Harvard University, United States

    3 publications · 476 citations

    3

    h-index

  5. FG
    Fei Gong

    Central South University, China

    2 publications · 45 citations

    2

    h-index

1–5 of 584

Institutions

228

  1. University of Exeter

    Exeter, United Kingdom

    5 h-index

    18 publications

    722 citations

  2. Murdoch Children's Research Institute

    Melbourne, Australia

    4 h-index

    39 publications

    11.6K citations

  3. Harvard University

    Cambridge, United States

    4 h-index

    17 publications

    2.1K citations

  4. NIHR Exeter Clinical Research Facility

    Exeter, United Kingdom

    3 h-index

    7 publications

    454 citations

  5. Boston Children's Hospital

    Boston, United States

    3 h-index

    11 publications

    1.3K citations

  6. The University of Melbourne

    Melbourne, Australia

    3 h-index

    22 publications

    6.8K citations

  7. Brigham and Women's Hospital

    Boston, United States

    3 h-index

    4 publications

    531 citations

  8. Broad Institute

    Cambridge, United States

    3 h-index

    8 publications

    511 citations

1–8 of 228

Venues

  1. Fertility and Sterility

    4 publications · 342 citations

    4

    h-index

  2. Human Reproduction

    4 publications · 121 citations

    4

    h-index

  3. Genome Medicine

    3 publications · 228 citations

    3

    h-index

  4. Genetics in Medicine

    GIM · 3 publications · 530 citations

    3

    h-index

  5. Journal of Community Genetics

    2 publications · 78 citations

    2

    h-index

1–5